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Tubby-like protein 2 (TULP2)

Target
TULP2
Molecular classification
Other (member of the tubby protein family), Potential RNA-binding protein (RBP) without a canonical RNA-binding domain
01

Overview

Tubby-like protein 2 (TULP2) is a member of the tubby family of proteins, encoded by the TULP2 gene on human chromosome 19q13.1, and consists of approximately 520 amino acids[1][5]. TULP2 is predominantly and specifically expressed in testes in both mice and humans and plays a critical role in spermatogenesis, particularly in spermatid differentiation, sperm tail/flagellum formation, and regulation of cytoskeletal and mitochondrial transcripts required for proper sperm function[2][3][4]. Loss of TULP2 in mice causes male infertility characterized by abnormal sperm tail structure and impaired motility, due in part to defects in outer dense fiber (ODF) formation[2]. TULP2 has been identified as a novel RNA-binding protein despite lacking a canonical RNA-binding domain and interacts with CCT8, a subunit of the chaperonin-containing TCP1 complex involved in protein folding, suggesting a potential role in protein homeostasis during spermatogenesis[3]. TULP2 may serve as a candidate genetic marker for certain forms of male infertility and is being explored further as a potential pathogenic gene in human dyszoospermia, but has no known role as a therapeutic drug target nor known interactions with approved drugs[3][4].

Other names
TUB like protein 2TULP2TUBL2CT65Cancer/testis antigen 65Tubby-related protein 2Tubby-like protein 2cancer/testis antigen 65cancer testis antigen 65
02

Biological functions

Spermatogenesis (spermatid differentiation and formation)Sperm tail (flagellum) morphogenesisRegulation of transcripts related to the cytoskeleton, mitochondria, and apoptosis in testes[2][3][4]
03

Disease associations

Male infertility (due to impaired sperm motility and tail formation)[2][3]Potential association with cone-rod dystrophy and retinitis pigmentosa (candidate gene based on expression/localization, not mutation-proven in humans)[1][5]Possible association with dyszoospermia in humans (missense mutations reported in male infertility cases)[3]
04

Biomarkers

Candidate genetic biomarker for male infertility (based on knockout mouse data and rare human mutations)[3][4]

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